Canonical Allele Identifier: CA2810114907
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63506369C>T , CM000679.2:g.63506369C>T GRCh38
NC_000017.10:g.61583730C>T , CM000679.1:g.61583730C>T GRCh37
NC_000017.9:g.58937462C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000577647.2:c.1970-687C>T ENSP00000464149.1:n.1970-687C>T